Allele Registry

Canonical Allele Identifier: PA2825955322

Gene: TSC1 HGNC NCBI

ClinVar Allele:

50138

ClinVar RCV:

RCV000034612

RCV001017939

RCV001080486

ClinVar Variation:

41699

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Arg233His	CA008318 NM_001162427.2:c.698G>A